{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["59(10)"],"submitter":["Bertoli-Avella A"],"pubmed_abstract":["<h4>Purpose</h4>We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.<h4>Methods</h4>Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.<h4>Results</h4>We identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in <i>AGR2</i>, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant <i>AGR2</i> "],"journal":["Journal of medical genetics"],"pagination":["993-1001"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9554030"],"repository":["biostudies-literature"],"pubmed_title":["A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene."],"pmcid":["PMC9554030"],"pubmed_authors":["Al Menabawy N","Jamhawi A","Urzi A","Moteleb Selim LA","Alharbi NS","Alghamdi MA","Tripolszki K","Hajjari Z","Aloraimi S","Paknia O","Al Shidhani K","Bauer P","Al Shehhi M","Gilani N","Alfadhel M","Arabi H","Venselaar H","Saeed A","Abdelrahman M","Karageorgou V","Demuth L","Pareira C","Morales-Torres G","Chalabi DN","Radefeldt M","Aljaedi H","Marais A","Hotakainen R","Al-Ali R","Cozma C","Ameziane N","Cheema H","Anjum N","Al-Muhsen S","Bertoli-Avella A","Busehail M","AlShaikh M","Fisher S","Khan S"],"additional_accession":[]},"is_claimable":false,"name":"A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene.","description":"<h4>Purpose</h4>We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.<h4>Methods</h4>Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.<h4>Results</h4>We identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in <i>AGR2</i>, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant <i>AGR2</i> ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-06-12T09:49:45.903Z","creation":"2024-11-11T23:27:56.206Z"},"accession":"S-EPMC9554030","cross_references":{"pubmed":["34952832"],"doi":["10.1136/jmedgenet-2021-108150"]}}